Linked Data
gnomAD v4:
7-100647163-CCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647165_100647166del , CM000669.2:g.100647165_100647166del | GRCh38 |
| NC_000007.13:g.100244788_100244789del , CM000669.1:g.100244788_100244789del | GRCh37 |
| NC_000007.12:g.100082724_100082725del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.821+58_821+59del MANE Select | ENSP00000160382.5:n.821+58_821+59del | |
| ENST00000160382.9:c.821+58_821+59del | ENSP00000160382.5:n.821+58_821+59del | |
| ENST00000487125.1:n.358-54_358-53del | ||
| NM_016188.4:c.821+58_821+59del | NP_057272.1:n.821+58_821+59del | |
| XR_927476.1:n.928+58_928+59del | ||
| NR_134539.1:n.928+58_928+59del | ||
| NM_016188.5:c.821+58_821+59del MANE Select | NP_057272.1:n.821+58_821+59del | |
| NR_134539.2:n.915+58_915+59del |